The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has no... See more...

Aliases for SEC14L4 Gene

Aliases for SEC14L4 Gene

  • SEC14 Like Lipid Binding 4 2 3 5
  • Tocopherol-Associated Protein 3 2 3 4
  • TAP3 2 3 4
  • SEC14-Like Protein 4 3 4
  • SEC14-Like 4 (S. Cerevisiae) 2
  • SEC14-Like Lipid Binding 4 2
  • SEC14p-Like Protein TAP3 3
  • SEC14-Like 4 3
  • DJ130H16.5 2
  • SEC14L4 5

External Ids for SEC14L4 Gene

Previous GeneCards Identifiers for SEC14L4 Gene

  • GC22M027579
  • GC22M029209
  • GC22M030884
  • GC22M013847

Summaries for SEC14L4 Gene

Entrez Gene Summary for SEC14L4 Gene

  • The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]

GeneCards Summary for SEC14L4 Gene

SEC14L4 (SEC14 Like Lipid Binding 4) is a Protein Coding gene. Diseases associated with SEC14L4 include Cholestasis, Intrahepatic, Of Pregnancy 3. Gene Ontology (GO) annotations related to this gene include transporter activity and lipid binding. An important paralog of this gene is SEC14L6.

UniProtKB/Swiss-Prot Summary for SEC14L4 Gene

  • Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids.

Additional gene information for SEC14L4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC14L4 Gene

Genomics for SEC14L4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC14L4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J030505 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 629.1 +0.3 310 1.2 HNRNPL GATAD2A TFE3 SOX13 RCOR2 RBFOX2 RXRB IRF2 POLR2A GABPA SEC14L4 SLC35E4 piR-43105-429 SEC14L3
GH22J030504 Enhancer 0.7 ENCODE 600.7 +1.0 1002 0.2 RXRB SOX13 TCF7 FOXA2 EP300 TEAD1 FOXP1 BCOR SMAD4 BCL6 SEC14L4 piR-43105-429 SEC14L3
GH22J030234 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.6 +259.0 258997 24.6 HNRNPL CREB1 CTCF PRDM10 ZNF629 ZNF512 IKZF1 KDM1A ZNF692 LARP7 LIF LOC91370 TUG1 SF3A1 EWSR1 MORC2 PES1 RNF215 TBC1D10A THOC5
GH22J030201 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.3 +298.0 297982 12.3 HNRNPL GATAD2A ATF7 TEAD4 PRDM10 ZNF629 TFE3 SOX13 IKZF1 NFKBIZ LOC105372988 TUG1 EWSR1 MORC2 PES1 OSM SF3A1 HORMAD2-AS1 LOC91370 MTMR3
GH22J030223 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 6.7 +279.3 279308 6.5 PRDM10 ZNF629 RFX1 SOX13 KDM1A CTCF JUND PATZ1 IKZF2 ZNF239 PES1 MORC2 TUG1 ENSG00000272689 LIF SF3A1 TBC1D10A ENSG00000248751 SEC14L2 ENSG00000249590
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC14L4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC14L4

Top Transcription factor binding sites by QIAGEN in the SEC14L4 gene promoter:
  • c-Myb
  • c-Myc
  • GCNF
  • GCNF-1
  • GCNF-2
  • GR
  • GR-alpha
  • GR-beta
  • Max
  • STAT5B

Genomic Locations for SEC14L4 Gene

Genomic Locations for SEC14L4 Gene
chr22:30,488,150-30,505,711
(GRCh38/hg38)
Size:
17,562 bases
Orientation:
Minus strand
chr22:30,884,889-30,901,698
(GRCh37/hg19)
Size:
16,810 bases
Orientation:
Minus strand

Genomic View for SEC14L4 Gene

Genes around SEC14L4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC14L4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC14L4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC14L4 Gene

Proteins for SEC14L4 Gene

  • Protein details for SEC14L4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UDX3-S14L4_HUMAN
    Recommended name:
    SEC14-like protein 4
    Protein Accession:
    Q9UDX3
    Secondary Accessions:
    • A5D6W7
    • A6NCV4

    Protein attributes for SEC14L4 Gene

    Size:
    406 amino acids
    Molecular mass:
    46644 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SEC14L4 Gene

    Alternative splice isoforms for SEC14L4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC14L4 Gene

Post-translational modifications for SEC14L4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SEC14L4 Gene

Domains & Families for SEC14L4 Gene

Gene Families for SEC14L4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SEC14L4 Gene

InterPro:
Blocks:
  • Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
  • Cellular retinaldehyde-binding protein signature
  • Cellular retinaldehyde-binding/triple function, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for SEC14L4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36129 fis, clone TESTI2024498, highly similar to SEC14-like protein 4 (B2RMR2_HUMAN)
  • cDNA FLJ36099 fis, clone TESTI2021057, highly similar to SEC14-like protein 4 (B3KSF0_HUMAN)
  • Tocopherol-associated protein 3 (S14L4_HUMAN)
genes like me logo Genes that share domains with SEC14L4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SEC14L4 Gene

Function for SEC14L4 Gene

Molecular function for SEC14L4 Gene

UniProtKB/Swiss-Prot Function:
Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids.

Phenotypes From GWAS Catalog for SEC14L4 Gene

Gene Ontology (GO) - Molecular Function for SEC14L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with SEC14L4: view
genes like me logo Genes that share phenotypes with SEC14L4: view

Animal Model Products

CRISPR Products

miRNA for SEC14L4 Gene

miRTarBase miRNAs that target SEC14L4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC14L4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC14L4 Gene

Localization for SEC14L4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC14L4 gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SEC14L4 Gene

Pathways & Interactions for SEC14L4 Gene

PathCards logo

SuperPathways for SEC14L4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEC14L4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SEC14L4 Gene

Drugs & Compounds for SEC14L4 Gene

(5) Drugs for SEC14L4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved, Vet_approved Nutra Target 526,534
Tocofersolan Approved Pharma Transporter, substrate 0
Tocopherol Approved, Investigational Pharma Transporter, substrate 9,535
alpha-Tocopherol acetate Approved, Vet_approved Nutra Transporter, substrate 0
Squalene Vet_approved Pharma 0
genes like me logo Genes that share compounds with SEC14L4: view

Transcripts for SEC14L4 Gene

mRNA/cDNA for SEC14L4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC14L4

Alternative Splicing Database (ASD) splice patterns (SP) for SEC14L4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for SEC14L4 Gene

GeneLoc Exon Structure for
SEC14L4

Expression for SEC14L4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC14L4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEC14L4 Gene

This gene is overexpressed in Liver (x29.4), Testis (x7.3), and Lung (x4.2).

Protein differential expression in normal tissues from HIPED for SEC14L4 Gene

This gene is overexpressed in Liver (20.7), Testis (16.5), Gallbladder (9.9), Ovary (9.2), and Spleen (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC14L4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC14L4

SOURCE GeneReport for Unigene cluster for SEC14L4 Gene:

Hs.517541

Evidence on tissue expression from TISSUES for SEC14L4 Gene

  • Liver(4.4)
genes like me logo Genes that share expression patterns with SEC14L4: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC14L4 Gene

Orthologs for SEC14L4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC14L4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC14L4 30 31
  • 98.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC14L4 30 31
  • 86.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC14L4 30 31
  • 86.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec14l4 30 17 31
  • 85.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec14l4 30
  • 83.42 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 66 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 54 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 64 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-89f7.1 31
  • 59 (a)
ManyToMany
FP016199.1 31
  • 52 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005701 30
  • 52.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG13893 30 31
  • 49.16 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ctg-1 31
  • 28 (a)
ManyToMany
ctg-2 31
  • 24 (a)
ManyToMany
H41C03.1 31
  • 23 (a)
ManyToMany
F20G2.3 31
  • 22 (a)
ManyToMany
cgr-1 31
  • 22 (a)
ManyToMany
F18A11.2 31
  • 20 (a)
ManyToMany
R03A10.5 31
  • 19 (a)
ManyToMany
F28H7.8 31
  • 19 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC14 31
  • 27 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
Species where no ortholog for SEC14L4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SEC14L4 Gene

ENSEMBL:
Gene Tree for SEC14L4 (if available)
TreeFam:
Gene Tree for SEC14L4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC14L4: view image

Paralogs for SEC14L4 Gene

Paralogs for SEC14L4 Gene

(7) SIMAP similar genes for SEC14L4 Gene using alignment to 6 proteins:

  • S14L4_HUMAN
  • B2RMR2_HUMAN
  • B3KSF0_HUMAN
  • D7F472_HUMAN
  • F8WEM2_HUMAN
  • G3V1L4_HUMAN
genes like me logo Genes that share paralogs with SEC14L4: view

Variants for SEC14L4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC14L4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs17738527 - p.Glu211Lys
rs17738540 - p.Val200Met
rs9606739 - p.Arg124Gly
rs9608956 - p.Ser3Gly

Additional dbSNP identifiers (rs#s) for SEC14L4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SEC14L4 Gene

Variant ID Type Subtype PubMed ID
nsv1110864 OTHER inversion 24896259
nsv829171 CNV loss 20364138
nsv955507 CNV deletion 24416366

Variation tolerance for SEC14L4 Gene

Residual Variation Intolerance Score: 91.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.84; 97.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC14L4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC14L4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC14L4 Gene

Disorders for SEC14L4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEC14L4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cholestasis, intrahepatic, of pregnancy 3
  • icp3
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SEC14L4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC14L4 Gene

Publications for SEC14L4 Gene

  1. Cloning of novel human SEC14p-like proteins: ligand binding and functional properties. (PMID: 12757856) Kempná P … Azzi A (Free radical biology & medicine 2003) 2 3 4
  2. Alternative splicing and gene polymorphism of the human TAP3/SEC14L4 gene. (PMID: 20012369) Kempna P … Zingg JM (Molecular biology reports 2010) 2 3
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for SEC14L4 Gene

  • Biorbyt antibodies for SEC14L4

Sources for SEC14L4 Gene